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https://www.readbyqxmd.com/read/29222262/pediatric-leukemia-susceptibility-disorders-manifestations-and-management
#1
REVIEW
Lisa J McReynolds, Sharon A Savage
The clinical manifestations of inherited susceptibility to leukemia encompass a wide phenotypic range, including patients with certain congenital anomalies or early-onset myelodysplastic syndrome (MDS) and some with no obvious medical problems until they develop leukemia. Leukemia susceptibility syndromes occur as a result of autosomal dominant, autosomal recessive, or X-linked recessive inheritance, or de novo occurrence, of germline pathogenic variants in DNA repair, ribosome biogenesis, telomere biology, hematopoietic transcription factors, tumor suppressors, and other critical cellular processes...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222109/marcks-related-protein-regulates-cytoskeletal-organization-at-cell-cell-and-cell-substrate-contacts-in-epithelial-cells
#2
Christina M Van Itallie, Amber Jean Tietgens, Angel Aponte, Marjan Gucek, Alexander X Cartagena-Rivera, Richard S Chadwick, James M Anderson
MARCKS-related protein (MRP) is tagged by biotin ligase fused to occludin and the level of tagging increases ∼20-fold following IFN/TNF treatment. GFP-MRP is focused at the lateral cell membrane and its overexpression potentiates the physiological response of the tight junction barrier to cytokines. However, deletion of MRP does not abrogate cytokine responses, suggesting that MRP is not required in the occludin-dependent IFN/TNF response. Instead, our results reveal a key role for MRP in epithelial cells in control of multiple actin-based structures, likely by regulation of integrin signaling...
December 8, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/29221096/high-resolution-beam-profiling-of-x-ray-free-electron-laser-radiation-by-polymer-imprint-development
#3
Benedikt Rösner, Florian Döring, Primož R Ribič, David Gauthier, Emiliano Principi, Claudio Masciovecchio, Marco Zangrando, Joan Vila-Comamala, Giovanni De Ninno, Christian David
High resolution metrology of beam profiles is presently a major challenge at X-ray free electron lasers. We demonstrate a characterization method based on beam imprints in poly (methyl methacrylate). By immersing the imprints formed at 47.8 eV into organic solvents, the regions exposed to the beam are removed similar to resist development in grayscale lithography. This allows for extending the sensitivity of the method by more than an order of magnitude compared to the established analysis of imprints created solely by ablation...
November 27, 2017: Optics Express
https://www.readbyqxmd.com/read/29221047/shortcuts-to-adiabaticity-in-non-hermitian-quantum-systems-without-rotating-wave-approximation
#4
Hong Li, H Z Shen, S L Wu, X X Yi
The technique of shortcuts to adiabaticity (STA) has attracted broad attention due to their possible applications in quantum information processing and quantum control. However, most studies published so far have been only focused on Hermitian systems under the rotating-wave approximation (RWA). In this paper, we propose a modified shortcuts to adiabaticity technique to realize population transfer for a non-Hermitian system without RWA. We work out an exact expression for the control function and present examples consisting of two-and three-level systems with decay to show the theory...
November 27, 2017: Optics Express
https://www.readbyqxmd.com/read/29220092/dose-rectification-of-an-unbalance-between-dpp4-and-glp-1-ameliorates-chronic-stress-related-vascular-aging-and-atherosclerosis
#5
Xian Wu Cheng, Megumi Narisawa, Enze Jin, Chenglin Yu, Wenhu Xu, Limei Piao
Exposure to psychosocial stress is a risk factor for cardiovascular disease, including vascular aging and regeneration. Dipeptidyl peptidase-4 (DPP-4) exerts many physiological and pharmacological functions by regulating its extremely abundant substrates [e.g., glucagon-like peptide-1 (GLP-1), stromal cell-derived factor-1α/ C-X-C chemokine receptor type-4, etc.]. Over the past decade, emerging data revealed unexpected roles for DPP-4 and GLP-1 in intracellular signaling, oxidative stress production, lipid metabolism, cell apoptosis, immune activation, insulin resistance, and inflammation...
December 8, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/29220073/collective-effects-of-common-snps-and-genetic-risk-prediction-in-type-1-diabetes
#6
Y Gui, X Lei, S Huang
Type 1 diabetes (T1D) is a common autoimmune disease and may be related to multiple genetic and environmental risk factors. Previous genetic studies have focused on looking for individual polymorphic risk variants. Here we studied the overall levels of genetic diversity in T1D patients by making use of a previously published study including 1,865 cases and 2,828 reference samples with genotyping data for 500K common single nucleotide polymorphisms (SNPs). We determined the minor allele status of each SNP in the reference samples and calculated the total number of minor alleles or minor allele contents (MAC) of each individual...
December 8, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29218632/further-insights-into-the-metal-ion-binding-abilities-and-the-metalation-pathway-of-a-plant-metallothionein-from-musa-acuminata
#7
Augusto C S Cabral, Jovana Jakovleska, Aniruddha Deb, James E Penner-Hahn, Vincent L Pecoraro, Eva Freisinger
The superfamily of metallothioneins (MTs) combines a diverse group of metalloproteins, sharing the characteristics of rather low molecular weight and high cysteine content. The latter provides MTs with the capability to coordinate thiophilic metal ions, in particular those with a d 10 electron configuration. The sub-family of plant MT3 proteins is only poorly characterized and there is a complete lack of three-dimensional structure information. Building upon our previous results on the Musa acuminata MT3 (musMT3) protein, the focus of the present work is to understand the metal cluster formation process, the role of the single histidine residue present in musMT3, and the metal ion binding affinity...
December 7, 2017: Journal of Biological Inorganic Chemistry: JBIC
https://www.readbyqxmd.com/read/29218432/the-2016-revision-of-the-who-classification-of-central-nervous-system-tumours-retrospective-application-to-a-cohort-of-diffuse-gliomas
#8
Te Whiti Rogers, Gurvinder Toor, Katharine Drummond, Craig Love, Kathryn Field, Rebecca Asher, Alpha Tsui, Michael Buckland, Michael Gonzales
The classification of central nervous system tumours has more recently been shaped by a focus on molecular pathology rather than histopathology. We re-classified 82 glial tumours according to the molecular-genetic criteria of the 2016 revision of the World Health Organization (WHO) Classification of Tumours of the Central Nervous System. Initial diagnoses and grading were based on the morphological criteria of the 2007 WHO scheme. Because of the impression of an oligodendroglial component on initial histological assessment, each tumour was tested for co-deletion of chromosomes 1p and 19q and mutations of isocitrate dehydrogenase (IDH-1 and 2) genes...
December 7, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29217836/drug-development-for-neurodevelopmental-disorders-lessons-learned-from-fragile-x-syndrome
#9
REVIEW
Elizabeth M Berry-Kravis, Lothar Lindemann, Aia E Jønch, George Apostol, Mark F Bear, Randall L Carpenter, Jacqueline N Crawley, Aurore Curie, Vincent Des Portes, Farah Hossain, Fabrizio Gasparini, Baltazar Gomez-Mancilla, David Hessl, Eva Loth, Sebastian H Scharf, Paul P Wang, Florian Von Raison, Randi Hagerman, Will Spooren, Sébastien Jacquemont
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden. FXS is the most frequent monogenic form of intellectual disability and autism, and the underlying pathophysiology linked to its causal gene, FMR1, has been the focus of intense research. Key alterations in synaptic function thought to underlie this neurodevelopmental disorder have been characterized and rescued in animal models of FXS using genetic and pharmacological approaches...
December 8, 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/29216427/a-novel-micro-emulsion-phase-transition-towards-the-elucidation-of-third-phase-formation-in-spent-nuclear-fuel-reprocessing
#10
Junju Mu, Ryuhei Motokawa, Kazuhiro Akutsu, Shotaro Nishitsuji, Andrew J Masters
We present evidence that the organic/third phase transition, as may be observed in the Plutonium Uranium Reduction EXtraction process (PUREX) at high metal loading, is an unusual transition between two isotropic, bi-continuous micro-emulsion phases. As this system contains so many components, however, we seek first to investigate the properties of a simpler system, viz. the related metal-free, quaternary system of water/n-dodecane/nitric acid/tri-butyl phosphate (TBP). Under appropriate conditions, this system exhibits three coexisting phases, namely the light organic phase, the third phase and the aqueous phase...
December 7, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/29215632/assembly-of-phospholipid-nanodiscs-of-controlled-size-for-structural-studies-of-membrane-proteins-by-nmr
#11
Franz Hagn, Mahmoud L Nasr, Gerhard Wagner
Suitable membrane mimetics are crucial to the performance of structural and functional studies of membrane proteins. Phospholipid nanodiscs (formed when a membrane scaffold protein encircles a small portion of a lipid bilayer) have native-like membrane properties. These have been used for a variety of functional studies, but structural studies by high-resolution solution-state NMR spectroscopy of membrane proteins in commonly used nanodiscs of 10-nm diameter were limited by the high molecular weight of these particles, which caused unfavorably large NMR line widths...
January 2018: Nature Protocols
https://www.readbyqxmd.com/read/29214992/charge-stripe-order-and-superconductivity-in-ir1-xptxte2
#12
O Ivashko, L Yang, D Destraz, E Martino, Y Chen, C Y Guo, H Q Yuan, A Pisoni, P Matus, S Pyon, K Kudo, M Nohara, L Forró, H M Rønnow, M Hücker, M V Zimmermann, J Chang
A combined resistivity and hard x-ray diffraction study of superconductivity and charge ordering in Ir Ir1-xPtxTe2, as a function of Pt substitution and externally applied hydrostatic pressure, is presented. Experiments are focused on samples near the critical composition x c  ~ 0.045 where competition and switching between charge order and superconductivity is established. We show that charge order as a function of pressure in Ir0.95Pt0.05Te2 is preempted - and hence triggered - by a structural transition...
December 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29214586/epidemiology-of-rare-lung-diseases-the-challenges-and-opportunities-to-improve-research-and-knowledge
#13
Cormac McCarthy, Beatriz Lara Gallego, Bruce C Trapnell, Francis X McCormack
Rare lung diseases encompass a broad spectrum of conditions and affect an estimated 1.2-2.5 million people in North America and 1.5-3 million people in Europe. While individual rare lung diseases affect less than 1 in 2000 individuals, collectively they have a significant impact upon the population at large. Hence it is vital to understand firstly the epidemiology and subsequently the pathogenesis and clinical course of these disorders. Through a greater understanding of these aspects of disease, progress can be made in reducing symptoms, containing healthcare costs and utilizing resources efficiently...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29212389/antimicrobial-therapy-of-macrolide-resistant-mycoplasma-pneumoniae-pneumonia-in-children
#14
Hyunju Lee, Ki Wook Yun, Hoan Jong Lee, Eun Hwa Choi
Mycoplasma pneumoniae is an important cause of community-acquired pneumonia in children and young adolescents. Macrolides are recommended as the first-line therapy however, macrolide resistance rates in M. pneumoniae among children have been increasing substantially. Areas covered: This review focused on clinical characteristics and treatment of macrolide-resistant M. pneumoniae pneumonia in children. Expert commentary: Antibiotic choice should be based on in vitro activity, clinical efficacy and in consideration of potential adverse events...
December 7, 2017: Expert Review of Anti-infective Therapy
https://www.readbyqxmd.com/read/29210650/reprograming-carcinoma-associated-fibroblasts-by-micrornas
#15
Y Xu, X Zhou, M Mei, Y Ren
Carcinoma-associated fibroblasts (CAFs) are activated fibroblasts during development of several cancer types, and therefore emerge as an attractive therapeutic target for cancer therapy. Drugs such as PT-100 and sibrotuzumab that block the functions of CAFs have already been in clinical trials. However, these drugs exhibit limited efficacy in patients, partially due to the fact that currently used biomarkers for determining efficacy are not CAF-specific. Furthermore, depletion of CAFs may promote carcinogenesis and accelerate cancer progression by inducing immunosuppression and hypoxia, leading to reduced survival...
December 4, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/29210264/morphology-and-surface-reactivity-relationship-in-the-li1-xmn2-xo4-spinel-with-x-0-05-and-0-10-a-combined-first-principle-and-experimental-study
#16
Ambroise Quesne-Turin, Germain Vallverdu, Delphine Flahaut, Joachim Allouche, Laurence Croguennec, Michel Ménétrier, Isabelle Baraille
This paper focuses on the surface reactivity of two spinel samples with different stoichiometries and crystal morphologies, namely Li1+xMn2-xO4 with x = 0.05 and x = 0.10. LiMn2O4 compounds are good candidates as positive electrode of high power lithium-ion batteries for portable devices. The samples were investigated using both experimental and theoretical approaches. On the experimental point of view there were characterized in depth from XRD, SEM and XPS analyses. Then the reactivity was investigated through the adsorption of (SO2) gaseous probes, in controlled conditions, followed by XPS characterization...
December 6, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/29209592/increased-expression-of-a-microrna-correlates-with-anthelmintic-resistance-in-parasitic-nematodes
#17
Victoria Gillan, Kirsty Maitland, Roz Laing, Henry Gu, Neil D Marks, Alan D Winter, David Bartley, Alison Morrison, Philip J Skuce, Andrew M Rezansoff, John S Gilleard, Axel Martinelli, Collette Britton, Eileen Devaney
Resistance to anthelmintic drugs is a major problem in the global fight against parasitic nematodes infecting humans and animals. While previous studies have identified mutations in drug target genes in resistant parasites, changes in the expression levels of both targets and transporters have also been reported. The mechanisms underlying these changes in gene expression are unresolved. Here, we take a novel approach to this problem by investigating the role of small regulatory RNAs in drug resistant strains of the important parasite Haemonchus contortus...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/29208928/finite-size-effect-on-the-structural-and-magnetic-properties-of-mnas-gaas-001-patterned-microstructures-thin-films
#18
Cristian Mocuta, Daniel Bonamy, Stefan Stanescu, Souliman El Moussaoui, Antoine Barbier, François Montaigne, Francesco Maccherozzi, Ernst Bauer, Rachid Belkhou
MnAs epitaxial thin films on GaAs(001) single crystalline substrates crystallize at room temperature (RT) in a mixture of two crystalline phases with distinct magnetic properties, organized as stripes along the MnAs [0001] direction. This particular morphology is driven by anisotropic epitaxial strain. We elucidate here the physical mechanisms at the origin of size reduction effect on the MnAs crystalline phase transition. We investigated the structural and magnetic changes in MnAs patterned microstructures (confined geometry) when the lateral dimension is reduced to values close to the periodicity and width of the stripes observed in continuous films...
December 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29207681/histone-demethylase-jmjd2c-epigenetic-regulators-in-tumors
#19
REVIEW
Chengcheng Zhang, Zhongqi Wang, Qing Ji, Qi Li
Histone methylation is one of the major epigenetic modifications, and various histone methylases and demethylases participate in the epigenetic regulating. JMJD2C has been recently identified as one of the histone lysine demethylases. As one member of the Jumonji-C histone demethylase family, JMJD2C has the ability to demethylate tri- or di-methylated histone 3 and 2 in either K9 (lysine residue 9) or K36 (lysine residue 36) sites by an oxidative reaction, thereby affecting heterochromatin formation, genomic imprinting, X-chromosome inactivation, and transcriptional regulation of genes...
October 31, 2017: Oncotarget
https://www.readbyqxmd.com/read/29206680/immune-therapies-in-acute-myeloid-leukemia-a-focus-on-monoclonal-antibodies-and-immune-checkpoint-inhibitors
#20
Rita Assi, Hagop Kantarjian, Farhad Ravandi, Naval Daver
PURPOSE OF REVIEW: This review discusses the rationale, efficacy, and toxicity of a variety of immune approaches being evaluated in the therapy of acute myeloid leukemia (AML) including naked and conjugated monoclonal antibodies, bispecific T-cell engager antibodies, and immune checkpoint blockade via antibodies targeting cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and programmed-death 1 (PD-1). RECENT FINDINGS: The stellar success of immune therapies that harness the power of T cells in solid tumors and an improved understanding of the immune system in patients with hematologic malignancies have resulted in major efforts to develop immune therapies for the treatment of patients with AML...
December 4, 2017: Current Opinion in Hematology
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